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Article

Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.

Journal of clinical lipidology - 1 Jan 2000

Péterfy Miklós, Bedoya Candy, Giacobbe Carola, Pagano Carmen, Gentile Marco, Rubba Paolo, Fortunato Giuliana, Di Taranto Maria Donata

Abstract excerpt

BACKGROUND: Severe hypertriglyceridemia is a rare disease characterized by triglyceride levels higher than 1000 mg/dL (11.3 mmol/L) and acute pancreatitis. The disease is caused by pathogenic variants in genes encoding lipoprotein lipase (LPL), apolipoprotein A5, apolipoprotein C2, glycosylphosphatidylinositol-anchored high-density lipoprotein-binding protein 1, and lipase maturation factor 1 (LMF1). OBJECTIVE:...

Read the complete abstract on PubMed

Topics

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Share to LPL gene
Share to Genetic Testing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Heterozygote

Share to Hypertriglyceridemia

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Share to Polymorphism, Single Nucleotide

Source

Open in PubMed Open full text

Identifiers

PMID: 30172716
DOI: 10.1016/j.jacl.2018.07.008
PMCID: PMC6338231

Genes

LMF1
LPL

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.PMID 30172716Read ↗

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